Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77001065_77001066delinsTG , CM000675.2:g.77001065_77001066delinsTG	GRCh38
NC_000013.10:g.77575200_77575201delinsTG , CM000675.1:g.77575200_77575201delinsTG	GRCh37
NC_000013.9:g.76473201_76473202delinsTG	NCBI36
NG_009064.1:g.14142_14143delinsTG , LRG_692:g.14142_14143delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.96_97delinsTG (CLN5) MANE Select	ENSP00000366673.5:n.96_97delinsTG
ENST00000616833.6:c.615_616delinsTG (CLN5)	ENSP00000479547.3:n.615_616delinsTG
ENST00000635838.1:c.174+4938_174+4939delinsTG
ENST00000635905.1:n.566+4938_566+4939delinsTG (CLN5)
ENST00000635915.1:c.1171_1172delinsTG (CLN5)
ENST00000636183.2:c.96_97delinsTG (CLN5)	ENSP00000490181.2:n.96_97delinsTG
ENST00000636525.2:c.565+4938_565+4939delinsTG (CLN5)	ENSP00000490078.2:n.565+4938_565+4939delinsTG
ENST00000636681.1:c.864_865delinsTG (CLN5)	ENSP00000489922.1:n.864_865delinsTG
ENST00000636705.1:c.1009_1010delinsTG (CLN5)
ENST00000636767.2:c.565+4938_565+4939delinsTG (CLN5)	ENSP00000489855.2:n.565+4938_565+4939delinsTG
ENST00000636780.2:c.622_623delinsTG (CLN5)	ENSP00000489809.2:n.622_623delinsTG
ENST00000637192.1:c.213+4938_213+4939delinsTG
ENST00000637278.1:n.1499_1500delinsTG (CLN5)
ENST00000637397.2:c.565+4938_565+4939delinsTG (CLN5)	ENSP00000490422.2:n.565+4938_565+4939delinsTG
ENST00000638101.1:c.169+4938_169+4939delinsTG	ENSP00000490535.1:n.169+4938_169+4939delinsTG
ENST00000638147.2:c.565+4938_565+4939delinsTG	ENSP00000490953.2:n.565+4938_565+4939delinsTG
ENST00000377453.7:c.96_97delinsTG (CLN5)	ENSP00000366673.3:n.96_97delinsTG
ENST00000477982.2:n.1243_1244delinsCA (FBXL3)
ENST00000485797.2:n.174-8115_174-8114delinsCA (FBXL3)
ENST00000616833.4:c.96_97delinsTG (CLN5)	ENSP00000479547.1:n.96_97delinsTG
NM_006493.2:c.96_97delinsTG , LRG_692t1:c.96_97delinsTG (CLN5)	NP_006484.1:n.96_97delinsTG
NM_001366624.1:c.622_623delinsTG (CLN5)	NP_001353553.1:n.622_623delinsTG
NM_006493.3:c.96_97delinsTG (CLN5)	NP_006484.2:n.96_97delinsTG
XM_017020538.2:c.644-8115_644-8114delinsCA (FBXL3)	XP_016876027.1:n.644-8115_644-8114delinsCA
NM_001366624.2:c.622_623delinsTG (CLN5)	NP_001353553.1:n.622_623delinsTG
NM_006493.4:c.96_97delinsTG (CLN5) MANE Select	NP_006484.2:n.96_97delinsTG

HGVS	Amino-acid Change
ENST00000377453.9:c.96_97delinsTG (CLN5) MANE Select	ENSP00000366673.5:n.96_97delinsTG
ENST00000616833.6:c.615_616delinsTG (CLN5)	ENSP00000479547.3:n.615_616delinsTG
ENST00000635838.1:c.174+4938_174+4939delinsTG
ENST00000635905.1:n.566+4938_566+4939delinsTG (CLN5)
ENST00000635915.1:c.1171_1172delinsTG (CLN5)
ENST00000636183.2:c.96_97delinsTG (CLN5)	ENSP00000490181.2:n.96_97delinsTG
ENST00000636525.2:c.565+4938_565+4939delinsTG (CLN5)	ENSP00000490078.2:n.565+4938_565+4939delinsTG
ENST00000636681.1:c.864_865delinsTG (CLN5)	ENSP00000489922.1:n.864_865delinsTG
ENST00000636705.1:c.1009_1010delinsTG (CLN5)
ENST00000636767.2:c.565+4938_565+4939delinsTG (CLN5)	ENSP00000489855.2:n.565+4938_565+4939delinsTG
ENST00000636780.2:c.622_623delinsTG (CLN5)	ENSP00000489809.2:n.622_623delinsTG
ENST00000637192.1:c.213+4938_213+4939delinsTG
ENST00000637278.1:n.1499_1500delinsTG (CLN5)
ENST00000637397.2:c.565+4938_565+4939delinsTG (CLN5)	ENSP00000490422.2:n.565+4938_565+4939delinsTG
ENST00000638101.1:c.169+4938_169+4939delinsTG	ENSP00000490535.1:n.169+4938_169+4939delinsTG
ENST00000638147.2:c.565+4938_565+4939delinsTG	ENSP00000490953.2:n.565+4938_565+4939delinsTG
ENST00000377453.7:c.96_97delinsTG (CLN5)	ENSP00000366673.3:n.96_97delinsTG
ENST00000477982.2:n.1243_1244delinsCA (FBXL3)
ENST00000485797.2:n.174-8115_174-8114delinsCA (FBXL3)
ENST00000616833.4:c.96_97delinsTG (CLN5)	ENSP00000479547.1:n.96_97delinsTG
NM_006493.2:c.96_97delinsTG , LRG_692t1:c.96_97delinsTG (CLN5)	NP_006484.1:n.96_97delinsTG
NM_001366624.1:c.622_623delinsTG (CLN5)	NP_001353553.1:n.622_623delinsTG
NM_006493.3:c.96_97delinsTG (CLN5)	NP_006484.2:n.96_97delinsTG
XM_017020538.2:c.644-8115_644-8114delinsCA (FBXL3)	XP_016876027.1:n.644-8115_644-8114delinsCA
NM_001366624.2:c.622_623delinsTG (CLN5)	NP_001353553.1:n.622_623delinsTG
NM_006493.4:c.96_97delinsTG (CLN5) MANE Select	NP_006484.2:n.96_97delinsTG